KNSTRN

Overview

KNSTRN (kinetochore-localized astrin/SPAG5 binding protein) encodes a kinetochore protein involved in chromosome segregation and mitotic fidelity. Recurrent somatic mutations in KNSTRN have been described in cutaneous squamous cell carcinoma, marking it as a novel cSCC driver gene with a UV mutational signature.

Alterations observed in the corpus

  • KNSTRN was cited as a recently described cSCC driver gene discussed in the context of metastatic cSCC genomic profiling (n=29 lymph-node metastases); it was not covered by the OncoPanelv2 (504-gene) capture reagent used in this study and thus could not be directly assessed. PMID:25589618

Cancer types (linked)

  • CSCC: KNSTRN has been nominated as a driver gene in primary cSCC based on recurrent UV-pattern somatic mutations; its prevalence and significance in metastatic cSCC remains uncharacterized due to panel coverage limitations. PMID:25589618

Co-occurrence and mutual exclusivity

Therapeutic relevance

Open questions

  • Whether KNSTRN mutations are enriched in primary versus metastatic cSCC and whether they overlap with RAS/RTK/PI3K activation events is unresolved. PMID:25589618

Sources

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